Canonical Allele Identifier: CA493404714

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797961-C-A
• MyVariant Identifiers: chr16:g.4847962C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797961C>A , CM000678.2:g.4797961C>A	GRCh38
NC_000016.9:g.4847962C>A , CM000678.1:g.4847962C>A	GRCh37
NC_000016.8:g.4787963C>A	NCBI36
NG_032174.1:g.9990G>T , LRG_455:g.9990G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.672G>T MANE Select	ENSP00000322832.6:p.Val224=
ENST00000322048.11:c.672G>T	ENSP00000322832.5:p.Val224=
ENST00000586153.1:c.318G>T	ENSP00000464699.1:p.Val106=
ENST00000586336.5:n.771G>T
ENST00000586504.5:c.425+110G>T
ENST00000587377.5:c.685G>T	ENSP00000468343.1:p.Ala229Ser
ENST00000587711.5:c.357G>T	ENSP00000467459.1:p.Val119=
ENST00000587843.5:c.*410G>T	ENSP00000465970.1:n.*410G>T
ENST00000588201.5:c.*663G>T	ENSP00000466529.1:n.*663G>T
ENST00000589543.5:n.629G>T
ENST00000591292.5:n.2001G>T
ENST00000591392.5:c.600G>T	ENSP00000467509.1:p.Val200=
ENST00000592019.1:c.77-146G>T
NM_024589.2:c.672G>T , LRG_455t1:c.672G>T	NP_078865.1:p.Val224=
NR_046480.1:n.996G>T
XM_006720947.2:c.672G>T	XP_006721010.1:p.Val224=
XM_006720948.2:c.402G>T	XP_006721011.1:p.Val134=
XM_006720947.4:c.672G>T	XP_006721010.1:p.Val224=
XM_006720948.4:c.402G>T	XP_006721011.1:p.Val134=
NM_024589.3:c.672G>T MANE Select	NP_078865.1:p.Val224=
NR_046480.2:n.679G>T